psychologywikiaorg-20200213-history
Genetic counseling: Breast Cancer - Ashkenazi Jew
Breast Cancer - Ashkenazi Jew Introduction *How are they, did they have any problems finding the place? Contracting *Find out what she knows about cancer and testing. *Review family history *Review medical history *What cancer is, how it happens *Talk about the specific risks to your family *Talk about the testing options and what it can tell you. *Talk about management Family history *Names of relatives *Cousins? *Daughters' screening practices? *Any more details about age of living uncles (paternal and maternal) *Bilateral/unilateral cancers? *Any idea about country paternal great-grandmother is from? *Anyone else with cancer? *Could we get documentation of the sarcoma or brain tumors? *Any leukemias? *Any pancreatic, melanoma? Medical history *How is she doing currently? *What are current screening practices? mammograms, self exams? *Any surgeries? *Any hospitalizations? *Medications? *Exercise/diet? Psychosocial (throughout) *Recently diagnosed with cancer/ currently undergoing treatment. How are you dealing with all of this? *Who do you go to for support? *Many family members with cancer. How did that impact your idea of risk? *Have you talked about this appointment with your family? *Are you concerned for your own health, what are your concerns/fears? *Have you considered the implications to the rest of your family? *Have you thought about what if it wasn't familial? How will you feel if testing is not warranted? Causes of breast cancer *Basic definition: the uncontrolled growth of cells. *Divisions **70-80% = sporadic (just happens to people for no connected reason -no previous family history) **20-30% = familial *chance alone *genetic susceptibility *shared environment *combination **5-10% = inherited - this is what we are concerned about and can help you test for *BRCA1 *BRCA2 *other genes? *Genes and chromosomes **People -> genes -> nucleotides = CAGT *chromosomes = instruction manual *genes= instructions *amnio acids = words *nucleotides = letters **Two copies of every chromosome, every gene. **Dominant Inheritance (50%) *Cancer is actually caused by a change in a tumor supressor gen*= they control cell growt*When both copies of the gene are changed (have a mutation) they cannot stop cell growth = tumor. (Two-hit hypothesis) **Two different ways it can be affected *acquired *inherited *The genes **Chromosome 17 (BRCA1) **Chromosome 13 (BRCA2) Who do we offer testing for - at greater risk? *More than one family member with cancer* *Single woman with breast and ovarian *Woman with bilateral breast cancer *Early onset age of cancer (<50) *Ovarian cancer at any age *Ashkenazi Jewish* *Odd cancers - male breast cancer, laryngeal cancer Based on your family history *What do you think you risk of being a carrier is? Familial chance of risk *Background risk of BRCA1/BRCA2 mutation carrier for As*Jewish heritage **1/40 is a mutation carrier *Three common mutations **BRCA1 - 185delAG (1.0%) **BRCA1 - 5382insC (0.15%) **BRCA2 - 617delT (1.5%) *BRCAPRO - 28.0% chance of carrying BRCA1 or BRCA2 **BRCA1 - 9.5% **BRCA2 - 18.5% *Couch model **avg age of dx 50-55 = 12.7% for BRCA1 *Shattuck-Eidens greater than 2 br. c*greater than 51 dx = 13% for BRCA1 *Claus Model (risk for your daughters to develop cancer) - based only on their mother. **Describe the numbers using the chart with the client* (get this chart!!) *0.2% by age 29 *0.8% by age 39 *2.3% by age 49 *4.9% by age 59 *8.2% by age 69 *11.0% by age 79 -lifetime risk. Cancer risks (for carriers of BRCA1/2) *Three types of risk **population risk **age based risk **lifetime risk *Risks associated with dev. Breast cancer **General pop. Lifetime = 11% **BRCA1/BRCA2 lifetime = 87% *Jewish carriers - 56% lifetime **BRCA1/BRCA2 age 40 = 20% **BRCA1/BRCA2 age 59 = 59% **BRCA1/BRCA2 age 70 = 82% *Risk of dev. Second primary breast tumor BRCA1 **age 50 = 48% **age 70 = 64% *Risk of second breast cancer with BRCA2 **50% lifetime risk *Ovarian cancer risk **General pop lifetime = 1-2% **age 50 w/ BRCA1= 29% **age 70 w/BRCA1 = 44% **Jew. Pop= 16% **age 70 w/BRCA2 = 15-20% *Other cancer risks **Prostate cancer = 30% (gen. pop = 17%) **laryngeal cancer, pancreatic cancer = slight increase **Jewish pop. prostate cancer=16% (depending on mutation - see results session outline) **Colon cancer slight increase **Male breast in BRCA2 age 70 = 6% (pop.=0.1%) Testing *The actual test **Ashkenazi triplet test (direct mutation analysis) *$375 **BRCA1/BRCA2 sequencing *after triplet screen = $2380 *Reasons to test **improved risk management **answer ? about the cancer risk **Info for family members **Lifestyle choices *Reasons not to test **psychological distress **worries of discriminations of employment/insurance **change in family dynamics *guilt complex *survivor guilt **false sense of security *Limitations of testing **The possible results of As*Jew. panel *positive result *negative result - may be one of the 17% who do not have the common mutations. Strong indication to do sequencing. **the possible results of sequencing *positive, known mutation *negative result - not informative unless we know a previous mutation *mutation of unknown significance - it is a mutation but we don't know what it means. **not all mutations are detected **results are a probability, not a certainty. *Two types of testing **Research *free *only tests some of the genes *detects 50% of mutations *takes 6-12 months **Clinic *expensive ($2400 for first relative) *sequences entire gene *takes 3-6 weeks (one month) Discrimination Issues *Health insurance **passage of HIPAA (Health insurance portability and accountability act) *for groups plans *protects from a change in individual charge based on genetic testing *genetic testing results can not be viewed as a previously existing condition *doesn't prevent access to genetic info. *doesn't prevent insurers from demanding testing as a coverage condition *doesn't prevent group rate hikes *doesn't provide protection if you are outside a group plan. *doesn't cover life or disability issues Results *Positive for deleterious mutation *Negative for mutation **means that for the areas tested, there is no gene mutation. **ONLY definitive if thee is a known mutation in the family **Possibility of other genes that we don't know about. *Variant of unknown significance Management *Breast recommendations for at risk family members **monthly self breast exam (starting at age 18) **clinical surveillance - every 6-12 months (starting at age 25) **annual mammography (age 25-35) **prophylactic mastectomy *reduces risk *Ovarian screening **Pelvic exam **Transvaginal ultrasound -every 6-12 months (staring at age 25-35) *more sensitive than transabdominal ultrasound *minor discomfort (bladder is empty) *assess abnormal structural findings **ovarian volume **cyst wall thickness **septal structure **CA-125 testing - every 6-12 months *measures a chemical in your blood - glycoprotein antigen - shed in blood stream from ovarian cancer cells. *level is elevated ½ patients with stage I ovarian cancer *level is elevated in 90% of patients stage II ovarian cancer *sensitivity is low *specificity is low due to other contributing factors **prophylactic oophorectomy *eliminates primary ovarian cancer risk (but residual could have cancer) *induces menopause *Colon screening **colonoscopy every 3-5 years starting age 50 **annual fecal occult tests Notes The information in this outline was last updated in 2000. Material obtained under GFDL Licence from http://en.wikibooks.org/wiki/Handbook_of_Genetic_Counseling